本文關(guān)鍵詞： 分枝桿菌易感性疾病 IFNGR基因 卡介苗病　出處：《中國循證兒科雜志》2017年04期 　論文類型：期刊論文

【摘要】：目的探討IFNGR1基因突變致分枝桿菌易感性疾病(MSMD)的臨床特征。方法總結(jié)2例IFNGR1基因突變MSMD患兒的臨床特征,ELISA方法檢測干擾素-γ(IFN-γ)釋放功能,流式細胞術(shù)檢測IFNGR1蛋白表達,Sanger測序方法分析IFNGR1基因突變。結(jié)果 (1)2例患兒均生后3月齡內(nèi)出現(xiàn)卡介苗病,以卡介苗接種側(cè)腋下淋巴結(jié)腫大為初始表現(xiàn),并逐漸播散累及肺部、腸道、中樞和骨髓。確診年齡分別為4歲和6歲。常規(guī)免疫功能(淋巴細胞亞群、免疫球蛋白、中性粒細胞呼吸爆發(fā)功能和補體)評估未見缺陷。(2)2例患兒的IFN-γ釋放能力明顯低下、IFNGR1蛋白表達均低于正常。(3)1例存在c.665 GA(p.G219R)純合突變,其父母均為c.665 GA(p.G219R)雜合突變;1例存在c.665 GA(p.G219R)和c.310 CA(p.A104N)復(fù)合雜合突變,分別遺傳自患兒母親[c.665 GA(p.G219R)雜合突變]及父親[c.310 CA(p.A104N)雜合突變]。其中1例患兒的突變?yōu)樾掳l(fā)突變,既往無文獻報道。(4)2例患兒在確診前抗癆治療效果不佳,確診后加用IFN-γ,卡介苗感染得到控制,未見其他不良反應(yīng)。結(jié)論 IFNGR1基因突變可導(dǎo)致MSMD�？ń槊绮』純撼Ｒ�(guī)免疫評估無缺陷時,需考慮該病可能,相關(guān)蛋白檢測、IFN-γ釋放實驗和基因分析有助于診斷。IFN-γ治療有一定療效。
[Abstract]:Objective to investigate the clinical characteristics of IFNGR1 gene mutation in patients with mycobacterial susceptibility to MSMD. Methods the clinical characteristics of 2 cases of MSMD with IFNGR1 gene mutation were summarized. The release function of IFN- 緯 was detected by Elisa. The expression of IFNGR1 protein was detected by flow cytometry and Sanger sequencing was used to analyze the mutation of IFNGR1 gene. Results BCG disease appeared in 2 cases within 3 months after birth. The initial manifestation was enlarged axillary lymph nodes on the side of BCG inoculation, and the spread of BCG spread to the lungs. Intestinal, central and bone marrow. Diagnosed at 4 and 6 years old respectively. Routine immune function (lymphocyte subsets, immunoglobulin), Neutrophil respiratory burst function and complement) the IFN- 緯 release ability was significantly lower in 2 cases with no defect. The expression of IFNGR1 protein was lower in 2 cases than that in the normal group. There was a homozygous mutation of c. 665 GAp.G219R in 1 case. The parents were both c.665 GAp.G219R) heterozygous mutations. One case had a complex heterozygous mutation of c. 665 GAp.G219Rand c. 310 CAp.A104N, which were inherited from the mother [c. 665 GAp.G219R] and father [c. 310 CAp.A104N], respectively. There was no previous literature report. 2 cases of children with BCG infection were treated with IFN- 緯 before the diagnosis, and the infection of BCG vaccine was controlled by the addition of IFN- 緯 after the diagnosis. No other adverse reactions were observed. Conclusion IFNGR1 gene mutation can lead to no defect in routine immunological evaluation of MSMD.BCG disease, the possibility of this disease should be considered, and the detection of IFN- 緯 release test and gene analysis may be helpful in the diagnosis of .IFN- 緯 therapy.
【作者單位】： 復(fù)旦大學(xué)附屬兒科醫(yī)院臨床免疫科;
【基金】：上海市科學(xué)技術(shù)委員會西醫(yī)引導(dǎo)項目:14411965400
【分類號】：R725.9
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本文編號：1547199